Clinical Subtypes | cmdir.org

Click on the name of a clinical subtype to access the details page.

New subtypes of congenital muscle disease are being discovered and described all the time. If you don’t see your subtype listed here, please get in touch with us at info@cmdir.org.

Congenital Muscle Disease
- Congenital Muscular Dystrophy
  
  ACTA1, ALG13, ALG3, B3GALNT2, B4GAT1/B3GNT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DOLK, DPM1, DPM3, EMD, FHL1, FKRP, FKTN, GMPPB, GOLGA2, ISPD/CRPPA, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMGNT2/GTDC2, POMK/SGK196, POMT1, POMT2, RXYLT1/TMEM5, SELENON/SEPN1, SYNE1, SYNE2, TCAP, TRAPPC11
  - ACTA1 Congenital Muscular Dystrophy with rigid spine
    
    ACTA1
  - Alpha 7 Integrin Related CMD (ITGA7)
    
    ITGA7
  - alpha-Dystroglycanopathy
    
    ALG13, ALG3, B3GALNT2, B4GAT1/B3GNT1, DAG1, DOLK, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, ISPD/CRPPA, LARGE, POMGNT1, POMGNT2/GTDC2, POMK/SGK196, POMT1, POMT2, RXYLT1/TMEM5, SNUPN, TRAPPC11
  - Choline Kinase B Receptor - CHKB
    
    CHKB
  - Collagen VI Related Disorders
    
    COL6A1, COL6A2, COL6A3
  - Collagen XII Related Disorders
    
    COL12A1
  - Congenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive)
  - Congenital Muscular Dystrophy with cataracts and intellectual disability (MDCCAID)
  - Congenital Muscular Dystrophy with joint hyperlaxity
  - Emery Dreifuss MD, EDMD
    
    EMD, FHL1, LMNA, SYNE1, SYNE2
    - Emery Dreifuss Muscular Dystrophy 1, X-Linked EDMD1 (EMD)
    - Emery Dreifuss Muscular Dystrophy 6, X-Linked EDMD6 (FHL1)
  - GOLGA2-related congenital muscle dystrophy with brain involvement
    
    GOLGA2
  - LAMA2-CMD (Merosin Deficient, full or partial)
    
    LAMA2
    - LAMA2-CMD
    - LGMDR23
    - MDC1A
  - LMNA Related Disorders
    
    LMNA
  - Nesprin Related CMD (SYNE1)
    
    SYNE1
  - SELENON Related Disorders (previously known as SEPN1)
    
    SELENON/SEPN1
  - Telethonin CMD (TCAP)
    
    TCAP
    - CMH25 (TCAP)
    - LGMD2G (TCAP)
- Congenital Myasthenic Syndrome - CMS
  
  AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MY09A, PLEC, PREPL, RASPN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, UNC13A, VAMP1/SBY1
- Congenital Myopathy
  
  ACTA1, ACTN2, ADSS1/ADSSL1, BAG3, BIN1, CACNA1S, CCDC78, CFL2, CNTN1, CRYAB, DES, DNAJB6, DNM2, FHL1, FKBP14, FLNC, HNRNPA1, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LDB3/ZASP, LMOD3, MTM1, MYH2, MYH7, MYL2, MYO18B, MYOT/TTID, MYPN, NEB, ORAI1, PAX7, PYROXD1/RYROXD1, RYR1, RYR3, SCN4A, SELENON/SEPN1, SPEG, STIM1, TNNT1, TNNT3, TPM2, TPM3, TTN, VCP, VMA21, ZAK
  - Actin Aggregation Myopathy
    
    ACTA1
  - Alpha 7 Integrin Related Myopathy (ITGA7)
    
    ITGA7
  - Brody Myopathy (ATP2A1)
    
    ATP2A1
  - CACNA1S Related Myopathy
    
    CACNA1S
    - Congenital Myopathy with ophthalmopelgia (CACN1S)
  - Cap Myopathy/Cap Disease
    
    ACTA1, TPM2, TPM3
    - ACTA1 Related Cap
    - TPM2 Related Cap
    - TPM3 Related Cap
  - Central Core Disease - CCD
    
    RYR1
    - RYR1 Related CCD
  - Centronuclear Myopathy - CNM
    
    BIN1, CCDC78, DNM2, MTM1, RYR1, SPEG, TTN
    - BIN1 Related CNM
    - CCDC78-Related Centronuclear Myopathy
      
      CCDC78
    - Dynamin 2 CMD/CM
      - CNM1
    - Myotubular Myopathy, X-linked - XLMTM/MTM1
    - RYR1 Related CNM
    - TTN related CNM
  - CNTN1-Related Congenital Myopathy
    
    CNTN1
    - Compton-North Congenital Myopathy (MYPCN)
  - Congenital Fiber Type Disproportion - CFTD
    
    ACTA1, MYH7, MYL2, RYR1, SELENON/SEPN1, TPM3, ZAK
  - Congenital Myopathy Not Otherwise Specified
  - Core Rod Myopathy
    
    NEB
    - NEB Related Core Rod
  - Desmin-Related Myopathy with Mallory Bodies
    
    DES
  - Distal Myopathy
    
    ADSS1/ADSSL1, MYH7
    - Distal Myopathy 1, Laing Distal Myopathy - MPD1 (MYH7)
      
      MYH7
    - Distal Myopathy 5 - MPD5 (ADSS1/ADSSL1)
      
      ADSS1/ADSSL1
  - FHL1 Related Myopathy
    
    FHL1
  - FKBP14-Related Disorders
    
    FKBP14
    - Ehlers-Danlos Syndrome, Type 2 (FKBP14)
    - FKBP14-kEDS
  - Hyaline Body Myopathy
    
    MYH7
  - Inclusion Body Myopathy
    
    HNRNPA1, MYH2, VCP
    - Congenital Fiber Type Disproportion - CFTD (MYH2)
    - Inclusion body myopathy with early-onset-paget disease with or without frontoteporal demenia 1 (VCP)
    - Isolated inclusion body myopathy - IBMPFD3 (HNRNPA1)
    - Myopathy proximal to ophthalmoplegia (MYH2)
    - Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (MYH2)
  - Multiminicore Myopathy/Multiminicore Disease
    
    ACTA1, RYR1, SELENON/SEPN1, TTN
    - ACTA1 Related MMD
    - RYR1 Related MMD
    - SELENON/SEPN1 Related MMD
    - TTN Related MMD
  - Multiple Structured Core Disease (MsCD)
    
    ACTN2
    - ACTN2 Related Congenital Myopathy
  - Myofibrillar Myopathy - MFM
    
    BAG3, CRYAB, DES, DNAJB6, FLNC, KY, LDB3/ZASP, MYOT/TTID, PYROXD1/RYROXD1, TTN
    - DES related Myofibrillar Myopathy (formerly LGMD1E or LGMD2R)
    - DNAJB6 related Myofibrillar Myopathy (formerly LGMD1D)
    - MYOT related Myofibrillar Myopathy (formerly LGMD1A)
  - Myosin Storage Congenital Myopathy (MYH7)
    
    MYH7
    - Cardiomyopathy, dilated, 1S - CMD1S
    - Cardiomyopathy, familial hypertrophic, 1, included - CMH1
    - Left ventricular noncompaction 5 - LVNC5 (MYH7)
    - Myosin Storage Myopathy
  - Nemaline Myopathy
    
    ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MYO18B, MYPN, NEB, RYR3, TNNT1, TNNT3, TPM2, TPM3
    - Arthrogryposis, distal, type 1A - DA1A (TPM2)
    - Arthrogryposis, distal, type 2B - DA2B (TPM2)
    - Cap myopathy - CAPM1 (TPM3)
    - Cap myopathy - CAPM2 (TPM2)
    - Congenital Fiber Type Disproportion - CFTD (ACTA1)
    - Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 (MYPN)
    - Klippel-Feil syndrome with Nemaline myopathy and facial dysmorphism - KFS4 (MYO18B)
    - Left ventricular noncompaction 4 - LVNC4 (ACTA1)
    - LGMD related to KBTBD13
    - Myopathy with nemaline bodies (RYR3)
    - Nemaline Myopathy with Cardiomyopathy (MYO18B)
  - Reducing Body Myopathy
    
    FHL1
  - RYR1 Related Disorders
    
    RYR1
    - Central Core Disease - CCD (RYR1)
    - Centronuclear Myopathy (RYR1)
    - Congenital Fiber Type Disproportion - CFTD (RYR1)
    - Dusty Core Disease (RYR1)
    - Exertional Myalgia with or without Rhabdomyolysis (RYR1)
    - Malignant Hyperthermia susceptibility - MHS1 (RYR1)
    - RYR1 Related Myopathy
  - Spheroid Body Myopathy
    
    MYOT/TTID
  - Titinopathy
    
    TTN
    - Autosomal dominant myopathy with proximal muscle weakness and early respiratory (TTN)
    - Cardiomyopathy, familial hypertrophic, 9 - CMH9 (TTN)
    - Centronuclear myopathy related to TTN
    - Hereditary myopathy with early respiratory failure - HMERF (TTN)
    - LGMD2J
    - LGMDR10 (Formerly LGMD2J)
    - Multiminicore disease (TTN)
    - Salih myopathy, (Congenital myopathy with fatal cardiomyopathy)
    - Tibial muscular dystrophy, tardive - TMD (TTN)
    - Titin Related Dilated Cardiomyopathy - CMD1G
    - Titin Related Myopathy
  - Tubular Aggregate Myopathy
    
    ORAI1, STIM1
  - X-linked myopathy with excessive autophagy (XMEA/MEAX)
    
    VMA21
  - Zebra Body Disease
    
    ACTA1
Limb-Girdle Muscular Dystrophy